Varaico: Literature-Extracted Genetic Variants

PAPSS1

197 papers

RefSeq Summary

Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conj...

Pfam Domains

APS_kinaseaa 51–203UCSCAdenylylsulphate kinase

PUA_2aa 226–386UCSCPUA-like domain

ATP-sulfurylaseaa 394–617UCSCATP-sulfurylase

Gene Aliases

HGNC Name

3'-phosphoadenosine 5'-phosphosulfate synthase 1

HGNC Alias Symbol

ATPSK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005443.5

p.N426K

c.1278T>A

Surrounding Variants

2 papers

NM_005443.5

p.N426K

c.1278T>G

2 papers

NM_005443.5

p.G427A

c.1280G>C

1 paper

NM_005443.5

p.L430M

c.1288C>A

1 paper

NM_005443.5

p.R421H

c.1262G>A

1 paper

NM_005443.5

p.F416S

c.1247T>C

1 paper

NM_005443.5

p.E441*

c.1321G>T

1 paper

NM_005443.5

p.G443G

c.1329C>A

1 paper

NM_005443.5

p.R445W

c.1333C>T

1 paper

NM_005443.5

p.R445Q

c.1334G>A

1 paper

NM_005443.5

p.R446C

c.1336C>T

1 paper

NM_005443.5

p.P447H

c.1340C>A

1 paper

NM_005443.5

p.L450L

c.1350C>G